A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677978



Internal ID9944083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73487004..73487303hg38UCSC Ensembl
chr14:73953709..73954008hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv400e199
Supporting Variantsessv5474152, essv6022818, essv5538733
SamplesNA18999, HG00501, NA19070
Known GenesHEATR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677978
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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